W200G (p.Trp200Gly) variant of GATA5 (Transcription factor GATA-5)
W200G (p.Trp200Gly) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital heart defects, multiple types, 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
W200G (p.Trp200Gly) variant details
- p.Trp200Gly
- rs1555896778
- ClinGen CA409555218
- ClinVar RCV000590855
- UniProt VAR 073072
- Pathogenic
- Congenital heart defects, multiple types, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.97
- ClinVar: Pathogenic (Congenital heart defects, multiple types, 5)
- EBI: Pathogenic (in CHTD5)
- UniProt: Pathogenic (in CHTD5)
- Structural context available
- Cited in: A novel GATA5 loss-of-function mutation underlies lone atrial fibrillation. (PMID 23175127)
- Cited in: Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. (PMID 22483626)